Treacher Collins Syndrome

treacher collins syndrome
Juliana at Birth

Juliana Wetmore was born with a rare genetic craniofacial disorder known as Treacher Collins Syndrome. This condition normally appears as elongated or sagging eyes and small or missing ears and generally affects 1 in 10,000. Not only is this a rare occurrence but, Julianna has perhaps the most severe case ever seen. The condition was first seen during pre-natal scans where doctors thought that she had a cleft palate. However, the full extent of her disfigurement was not seen until she was born.

Treacher Collins Syndrome is a genetic mutation that prevents the proper formation of the skull, cheek and jaw bones. Juliana’s case was so severe she required immediate plastic surgery to uncover her left eye and to open up an airway so that she could breathe.

Dr. Teng a neonatal physician at Shands Jacksonville Medical Centre described Juliana as the worst case he has experienced in his life. Nancy DeBiase a nurse on the ward with Juliana requested a cat scan to check if there was a fully-formed brain inside this mis-shapen skull and was delighted and amazed to discover that there was.

post surgery
Juliana at Two

Dr S. Anthony Wolfe, Chief of plastic and reconstructive surgery explained that Juliana’s case was due to the presence of the Treacher Collins gene plus another aberrant gene which amplified the effect. These genes affected the embryonic development at an early, probably intra-utero, stage.

As Juliana has no ears she needed to be fitted with a bone conduction hearing aid. She began therapy with Judy Hammer-Knisely a Paediatric Speech and Language Pathologist at the Wolfson Children’s Hospital in Miami. As her mouth is not properly formed she cannot speak so the therapy involved teaching her some basic sign language. Also, the malformed mouth prevents her from eating, so Juliana has to be fed through a pipe into her stomach.

By the time Juliana was two years old she has had two major operations and many other surgeries. Her mother Tami and father Thom Wetmore, a flight engineer with the US Navy, have been at her side almost constantly. Fortunately the US Navy benefits scheme has picked up the tab, so far, for Julianna’s treatment. An estimated $3,000,000.

As she grows there is an ever present danger that holes will open up in her skull. A fact that has already required bone grafts, including one where a section of one of her ribs was removed, split and used to graft into a hole in her skull and to aid rebuilding of her nose.

Juliana will need continuous surgery for many years to complete the rebuilding of her face.

The documentary team have revisited Juliana recently, Juliana is Three, see how she has progressed.

Juliana Wetmore is still progressing, the latest check on her Web site reveals that she is at school and gaining a certain degree of independence.

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